Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs28934571
rs28934571
TP53
31 0.645 0.360 17 7674216 missense variant C/A;G snv 0.030 1.000 3 2018 2019
dbSNP: rs1447295
rs1447295
CASC8
29 0.658 0.400 8 127472793 intron variant A/C;T snv 0.020 1.000 2 2008 2014
dbSNP: rs1051861187
rs1051861187
ABCB4
6 0.827 0.080 7 87409385 missense variant A/G snv 0.010 1.000 1 2017 2017
dbSNP: rs113488022
rs113488022
BRAF
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs121912666
rs121912666
TP53
34 0.645 0.360 17 7674872 missense variant T/C;G snv 8.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs121913377
rs121913377
BRAF
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.010 1.000 1 2018 2018
dbSNP: rs1330010954
rs1330010954
DLC1
4 0.882 0.080 8 13094897 missense variant C/T snv 4.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs2299939
rs2299939
PTEN
5 0.827 0.080 10 87897393 intron variant C/A;T snv 0.010 < 0.001 1 2015 2015
dbSNP: rs28362491
rs28362491
NFKB1 ; LOC105377621
56 0.592 0.720 4 102500998 non coding transcript exon variant ATTG/- delins 0.010 1.000 1 2014 2014
dbSNP: rs28929474
rs28929474
SERPINA1
37 0.708 0.320 14 94378610 missense variant C/G;T snv 2.8E-05; 1.1E-02 0.010 1.000 1 2011 2011
dbSNP: rs28934575
rs28934575
TP53
37 0.641 0.400 17 7674230 missense variant C/A;G;T snv 0.010 1.000 1 2009 2009
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2014 2014
dbSNP: rs5854292
rs5854292
EGFEM1P
5 0.851 0.080 3 168680960 intron variant AA/-;A;AAA delins 0.010 1.000 1 2019 2019
dbSNP: rs587782237
rs587782237
TP53
3 0.882 0.080 17 7670637 missense variant C/T snv 0.010 1.000 1 2019 2019
dbSNP: rs737241
rs737241
AFP
7 0.827 0.120 4 73451012 intron variant G/A;C snv 0.010 1.000 1 2019 2019
dbSNP: rs867384693
rs867384693
HDAC3
6 0.851 0.120 5 141625349 missense variant C/A;T snv 0.010 1.000 1 2016 2016
dbSNP: rs769031989
rs769031989
STAT3
4 0.851 0.160 17 42322464 missense variant T/A snv 7.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs756966085
rs756966085
DLC1
4 0.882 0.080 8 13090431 missense variant C/T snv 8.0E-06 7.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs745501336
rs745501336
RAB43 ; ISY1-RAB43
3 0.882 0.080 3 129091263 missense variant C/T snv 4.6E-05 7.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs1476081557
rs1476081557
KMT2B
3 0.882 0.080 19 35721455 missense variant G/T snv 7.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs779555087
rs779555087
HNF4A
3 0.882 0.080 20 44414561 missense variant A/G snv 1.6E-05 1.4E-05 0.010 1.000 1 2019 2019
dbSNP: rs372894000
rs372894000
DLC1
4 0.882 0.080 8 13092766 missense variant C/T snv 2.0E-05 1.4E-05 0.010 1.000 1 2005 2005
dbSNP: rs764555290
rs764555290
KRT6A
3 0.882 0.080 12 52492759 missense variant G/C snv 1.2E-05 1.4E-05 0.010 1.000 1 2019 2019
dbSNP: rs367597251
rs367597251
MDM2
10 0.807 0.080 12 68839587 missense variant A/G snv 1.5E-04 5.1E-04 0.010 1.000 1 2020 2020
dbSNP: rs80309960
rs80309960
XRCC5
4 0.851 0.080 2 216122110 missense variant T/A snv 3.5E-04 1.1E-03 0.010 1.000 1 2013 2013